Overview
Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a very rare inherited brain disorder that affects the cerebellum, the part of the brain responsible for coordinating movement and balance. It is caused by changes (mutations) in the GRID2 gene, which provides instructions for making a protein called glutamate receptor delta-2. This protein plays a key role in how brain cells in the cerebellum communicate with each other and develop properly. When this protein is missing or not working correctly, the cerebellum does not function as it should. Children with this condition typically show signs early in life, including delayed motor milestones such as sitting and walking, unsteady gait (ataxia), poor coordination, and sometimes involuntary eye movements (nystagmus). Some children may also have difficulties with speech and, in some cases, mild intellectual disability. Brain imaging often reveals that the cerebellum is smaller than normal, a finding called cerebellar atrophy or hypoplasia. There is currently no cure for this condition. Treatment focuses on managing symptoms and supporting development. Physical therapy, occupational therapy, and speech therapy are the main approaches used to help children improve their motor skills, coordination, and communication. The condition is non-progressive or very slowly progressive in many cases, meaning symptoms may stabilize over time, though challenges with balance and coordination typically persist throughout life.
Also known as:
Key symptoms:
Unsteady walking and poor balance (ataxia)Delayed motor milestones such as sitting and walkingInvoluntary eye movements (nystagmus)Poor coordination of hand and arm movementsSlurred or slow speechLow muscle tone (floppiness) in infancyDifficulty with fine motor tasks like writing or buttoning clothesTremor or shaking during purposeful movementsSmaller-than-normal cerebellum seen on brain scansMild intellectual disability in some casesDifficulty with eye tracking and smooth eye movements
Clinical phenotype terms (11)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency.
Community
No community posts yet. Be the first to share your experience with Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency.
Start the conversation →Latest news about Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
No recent news articles for Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency.
Follow this condition to be notified when news becomes available.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my child's cerebellar involvement based on the MRI findings?,What specific therapies do you recommend, and how often should they occur?,Is this condition expected to stay stable or could it worsen over time?,Are there any clinical trials or research studies my child could participate in?,What school accommodations should we request to support my child's learning?,Should other family members be tested for carrier status?,Are there any other specialists we should see regularly?
Common questions about Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
What is Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency?
Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a very rare inherited brain disorder that affects the cerebellum, the part of the brain responsible for coordinating movement and balance. It is caused by changes (mutations) in the GRID2 gene, which provides instructions for making a protein called glutamate receptor delta-2. This protein plays a key role in how brain cells in the cerebellum communicate with each other and develop properly. When this protein is missing or not working correctly, the cerebellum does not function as it should. Children with this conditi
How is Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency inherited?
Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency typically begin?
Typical onset of Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is infantile. Age of onset can vary across affected individuals.